Translation of glaucoma blindness genes to improve clinical practice

  • Craig, Jamie E. (Chief Investigator)
  • Graham, Stuart L. (Primary Chief Investigator)
  • Ruddle, Jonathan B. (Chief Investigator)
  • Burdon, Kathryn P. (Chief Investigator)
  • Palmer, Lyle (Chief Investigator)
  • Landers, John (Chief Investigator)
  • Gharahkhani, Puya (Chief Investigator)
  • Casson, Robert J. (Chief Investigator)
  • Hewitt, Alex W. (Associate Investigator)
  • MacGregor, Stuart (Associate Investigator)
  • Mackey, David A. (Associate Investigator)

    Project: Other

    Project Details


    Glaucoma is the commonest cause of irreversible blindness worldwide. The only available treatment proven to slow glaucoma progression is
    lowering of intraocular pressure. However, despite treatment, many individuals still develop progressive loss of vision. For those at high risk of
    blindness, early treatment reduces the likelihood of major visual disability. Conversely, for low-risk individuals, costly lifelong treatment may be
    instituted unnecessarily. Individuals with suspicious optic disc appearances but normal visual fields are known as “glaucoma suspects”. Current
    ability to predict the risk of blindness in glaucoma suspects and early glaucoma is extremely poor. Recent genome-wide association studies by us
    and others have identified multiple genes associated with glaucoma, and we are extending our work to discover further common genetic
    associations for glaucoma by meta-analysis. We will then investigate whether these genetic variants are associated with conversion of glaucoma
    suspects to glaucoma with vision loss, and with the rate of progression in established early glaucoma. The study will enroll subjects classified as
    (A) "glaucoma suspects", a group in which the decision to monitor or treat is poorly defined with current evidence, and (B) “early manifest
    glaucoma”, a group in which ability to predict progression rates would impact on timing and type of treatment. We will monitor 1000
    participants in each arm for the duration of the study to determine whether glaucoma genetic risk variants are associated with clinical
    progression parameters. The risk factors for progression to glaucoma have not been previously studied in the full range of glaucoma suspects,
    and genetic risk profiling has not been attempted in a prospective study of early manifest glaucoma progression. An evidence based process for
    risk adjustment in the early stages of disease would have a favourable impact on the budget required for monitoring and treating this group of
    Effective start/end date1/01/1931/12/22